Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 2 | 47806628 | frameshift variant | -/A | delins | 0.700 | 1.000 | 6 | 2003 | 2015 | |||||||
|
2 | 1.000 | 0.160 | 2 | 47806614 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2003 | 2014 | |||||
|
3 | 1.000 | 0.160 | 2 | 47806453 | frameshift variant | -/A | delins | 0.700 | 1.000 | 2 | 2010 | 2016 | |||||
|
3 | 1.000 | 0.160 | 2 | 47799772 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 2 | 47806462 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47806464 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47806542 | stop gained | -/A | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.160 | 2 | 47799553 | stop gained | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 2 | 47799680 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47800242 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47803520 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47804946 | stop gained | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 2 | 47806511 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
4 | 0.925 | 0.160 | 2 | 47804984 | frameshift variant | -/A;AA | delins | 0.700 | 1.000 | 7 | 1999 | 2014 | |||||
|
1 | 2 | 47799278 | frameshift variant | -/AA | ins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47806271 | stop gained | -/AAAAT | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47806216 | frameshift variant | -/AACA | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 2 | 47806476 | frameshift variant | -/AAGA | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47806498 | frameshift variant | -/ACGTTCCT | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47800353 | frameshift variant | -/AGAC | delins | 0.700 | 0 | ||||||||||
|
2 | 2 | 47805621 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47806628 | frameshift variant | -/ATCA | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47806568 | frameshift variant | -/ATCTCCCA | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 0.160 | 2 | 47803577 | stop gained | -/ATGA | delins | 7.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2015 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806496 | frameshift variant | -/ATTA | delins | 0.700 | 1.000 | 1 | 2012 | 2012 |